Mutagenetix > Incidental Mutation

Incidental Mutation 'R9700:Ints14'

729520

Institutional Source

Beutler Lab

Gene Symbol

Ints14

Ensembl Gene

ENSMUSG00000034263

Gene Name

integrator complex subunit 14

Synonyms

2010321M09Rik, Vwa9

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R9700 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64868187-64894260 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 64880007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 174 (R174*)

Ref Sequence

ENSEMBL: ENSMUSP00000049284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037504] [ENSMUST00000170517]

AlphaFold

Q8R3P6

Predicted Effect

probably null
Transcript: ENSMUST00000037504
AA Change: R174*

SMART Domains

Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: R174*

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170517
AA Change: R174*

SMART Domains

Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: R174*

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,311,442 (GRCm39)	S1233F	probably benign	Het
Aldh1a2	G	T	9: 71,123,228 (GRCm39)	E34*	probably null	Het
Arhgap39	T	C	15: 76,611,617 (GRCm39)	T856A	probably damaging	Het
Arpin	A	G	7: 79,578,015 (GRCm39)	V138A	probably damaging	Het
Art3	T	G	5: 92,562,120 (GRCm39)	S373A	unknown	Het
AU018091	A	T	7: 3,208,165 (GRCm39)	I514N	probably benign	Het
BC034090	C	T	1: 155,101,982 (GRCm39)	R94H	probably damaging	Het
C2cd6	T	G	1: 59,117,089 (GRCm39)	M135L	probably benign	Het
Cdc42ep2	T	C	19: 5,968,097 (GRCm39)	M203V	probably damaging	Het
Cftr	T	C	6: 18,268,359 (GRCm39)	Y803H	probably damaging	Het
Dcaf1	C	T	9: 106,735,524 (GRCm39)	T824I	probably benign	Het
Ddr1	A	T	17: 35,993,288 (GRCm39)	D906E	probably damaging	Het
Dhx8	G	A	11: 101,624,015 (GRCm39)		probably null	Het
Dpysl5	C	T	5: 30,904,417 (GRCm39)	Q88*	probably null	Het
Ercc6l2	A	G	13: 63,967,525 (GRCm39)	T42A	probably benign	Het
Faf1	A	G	4: 109,748,179 (GRCm39)	K495E	possibly damaging	Het
Hr	T	C	14: 70,804,616 (GRCm39)	V928A	probably benign	Het
Jam3	T	C	9: 27,010,183 (GRCm39)	Y267C	probably damaging	Het
Lpin3	A	T	2: 160,740,565 (GRCm39)	N370I	probably benign	Het
Mad2l1	C	A	6: 66,512,955 (GRCm39)	N29K	probably damaging	Het
Myt1	A	G	2: 181,452,177 (GRCm39)	K838R	probably damaging	Het
Ninj2	T	C	6: 120,174,873 (GRCm39)	S15P	probably benign	Het
Or14a256	A	T	7: 86,265,618 (GRCm39)	N78K	probably benign	Het
Or1j14	T	A	2: 36,418,313 (GRCm39)	D296E	probably benign	Het
Or6b9	A	G	7: 106,555,630 (GRCm39)	V171A	probably benign	Het
Or9a2	T	A	6: 41,749,076 (GRCm39)	K52N	probably benign	Het
Osgin2	A	G	4: 16,006,455 (GRCm39)	S80P	probably damaging	Het
Pcdha5	A	G	18: 37,094,447 (GRCm39)	N319D	probably benign	Het
Phkb	A	G	8: 86,567,696 (GRCm39)	K14E	probably benign	Het
Pip5k1b	T	C	19: 24,281,460 (GRCm39)	Y518C	probably benign	Het
Polh	A	T	17: 46,510,414 (GRCm39)	M14K	probably damaging	Het
Prtg	A	G	9: 72,762,313 (GRCm39)	D480G	probably benign	Het
Ptprk	T	C	10: 28,456,495 (GRCm39)	V1099A	probably damaging	Het
Pum2	T	C	12: 8,779,044 (GRCm39)	F539L	probably damaging	Het
Rac3	A	T	11: 120,613,399 (GRCm39)	T58S	probably damaging	Het
Setd1a	A	T	7: 127,385,752 (GRCm39)	I820F	possibly damaging	Het
Six2	A	G	17: 85,994,867 (GRCm39)	F172L	probably damaging	Het
Spic	T	A	10: 88,515,757 (GRCm39)	I22F	probably benign	Het
Tex30	T	C	1: 44,130,374 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,778,411 (GRCm39)	I394T	probably benign	Het
Tnc	A	G	4: 63,933,186 (GRCm39)	F693L	probably damaging	Het
Ubr4	T	A	4: 139,119,388 (GRCm39)	V189E	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zan	T	C	5: 137,454,836 (GRCm39)	H1400R	unknown	Het
Zfp36l2	A	G	17: 84,494,184 (GRCm39)	I151T	possibly damaging	Het
Zfp809	T	C	9: 22,154,470 (GRCm39)	C396R	unknown	Het
Zfp93	G	A	7: 23,974,894 (GRCm39)	G293D	probably damaging	Het

Other mutations in Ints14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Ints14	APN	9	64,880,074 (GRCm39)	missense	probably benign	0.30
R0376:Ints14	UTSW	9	64,891,272 (GRCm39)	missense	probably damaging	0.98
R0589:Ints14	UTSW	9	64,887,113 (GRCm39)	missense	probably damaging	1.00
R0614:Ints14	UTSW	9	64,871,715 (GRCm39)	missense	probably benign
R0708:Ints14	UTSW	9	64,891,266 (GRCm39)	missense	probably benign	0.29
R1192:Ints14	UTSW	9	64,874,045 (GRCm39)	missense	possibly damaging	0.86
R2114:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2115:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2117:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2484:Ints14	UTSW	9	64,893,366 (GRCm39)	missense	probably benign
R4811:Ints14	UTSW	9	64,871,800 (GRCm39)	missense	probably damaging	1.00
R4953:Ints14	UTSW	9	64,889,340 (GRCm39)	missense	probably damaging	1.00
R5067:Ints14	UTSW	9	64,871,694 (GRCm39)	missense	probably damaging	1.00
R6080:Ints14	UTSW	9	64,874,044 (GRCm39)	missense	probably benign	0.02
R6326:Ints14	UTSW	9	64,871,719 (GRCm39)	missense	probably benign	0.08
R6395:Ints14	UTSW	9	64,885,406 (GRCm39)	splice site	probably null
R7036:Ints14	UTSW	9	64,871,827 (GRCm39)	missense	probably benign
R7147:Ints14	UTSW	9	64,891,267 (GRCm39)	missense	possibly damaging	0.93
R7203:Ints14	UTSW	9	64,871,701 (GRCm39)	missense	probably damaging	1.00
R8171:Ints14	UTSW	9	64,880,532 (GRCm39)	missense	possibly damaging	0.90
R9390:Ints14	UTSW	9	64,891,314 (GRCm39)	missense	probably benign	0.08
R9561:Ints14	UTSW	9	64,882,932 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCTTTACTAAATGCTAGACTGC -3'
(R):5'- CTCATTTTATCTGAGAGCTGGGC -3'

Sequencing Primer
(F):5'- AGACTGCTTAGTTTTTCCACTTGAG -3'
(R):5'- TCCTGGGGAGAACTGAGTCAC -3'

Posted On

2022-10-06